MCID: SYN120
MIFTS: 20

Syndromic Oculocutaneous Albinism

Categories: Eye diseases, Rare diseases, Skin diseases

Aliases & Classifications for Syndromic Oculocutaneous Albinism

MalaCards integrated aliases for Syndromic Oculocutaneous Albinism:

Name: Syndromic Oculocutaneous Albinism 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 E70.3
Orphanet 58 ORPHA284811

Summaries for Syndromic Oculocutaneous Albinism

MalaCards based summary : Syndromic Oculocutaneous Albinism is related to albinism and pathologic nystagmus. An important gene associated with Syndromic Oculocutaneous Albinism is SLC24A5 (Solute Carrier Family 24 Member 5), and among its related pathways/superpathways is Lysosome. Affiliated tissues include skin and eye, and related phenotypes are craniofacial and pigmentation

Related Diseases for Syndromic Oculocutaneous Albinism

Graphical network of the top 20 diseases related to Syndromic Oculocutaneous Albinism:



Diseases related to Syndromic Oculocutaneous Albinism

Symptoms & Phenotypes for Syndromic Oculocutaneous Albinism

MGI Mouse Phenotypes related to Syndromic Oculocutaneous Albinism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 HPS6 OCA2 SLC24A4 SLC24A5
2 pigmentation MP:0001186 8.8 HPS6 OCA2 SLC24A5

Drugs & Therapeutics for Syndromic Oculocutaneous Albinism

Search Clinical Trials , NIH Clinical Center for Syndromic Oculocutaneous Albinism

Genetic Tests for Syndromic Oculocutaneous Albinism

Anatomical Context for Syndromic Oculocutaneous Albinism

MalaCards organs/tissues related to Syndromic Oculocutaneous Albinism:

40
Skin, Eye

Publications for Syndromic Oculocutaneous Albinism

Articles related to Syndromic Oculocutaneous Albinism:

(show all 11)
# Title Authors PMID Year
1
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. 61
31077556 2019
2
Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report. 61
31345173 2019
3
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. 61
30791930 2019
4
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. 61
28640947 2017
5
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. 61
27129268 2016
6
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism]. 61
26252096 2015
7
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. 61
23985994 2014
8
OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. 61
23050561 2013
9
The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. 61
23721540 2013
10
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. 61
17041891 2006
11
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. 61
16704458 2006

Variations for Syndromic Oculocutaneous Albinism

Expression for Syndromic Oculocutaneous Albinism

Search GEO for disease gene expression data for Syndromic Oculocutaneous Albinism.

Pathways for Syndromic Oculocutaneous Albinism

Pathways related to Syndromic Oculocutaneous Albinism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.71 LAMP3 CD63

GO Terms for Syndromic Oculocutaneous Albinism

Cellular components related to Syndromic Oculocutaneous Albinism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 late endosome membrane GO:0031902 9.26 LAMP3 CD63
2 melanosome GO:0042470 9.16 SLC24A5 CD63
3 lysosome GO:0005764 9.13 LAMP3 HPS6 CD63
4 lysosomal membrane GO:0005765 8.92 OCA2 LAMP3 HPS6 CD63

Biological processes related to Syndromic Oculocutaneous Albinism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.54 SLC24A5 SLC24A4 OCA2
2 potassium ion transport GO:0006813 9.48 SLC24A5 SLC24A4
3 potassium ion transmembrane transport GO:0071805 9.46 SLC24A5 SLC24A4
4 calcium ion transmembrane transport GO:0070588 9.43 SLC24A5 SLC24A4
5 sodium ion transport GO:0006814 9.4 SLC24A5 SLC24A4
6 cellular calcium ion homeostasis GO:0006874 9.32 SLC24A5 SLC24A4
7 sodium ion transmembrane transport GO:0035725 9.26 SLC24A5 SLC24A4
8 anion transmembrane transport GO:0098656 9.16 SLC24A5 SLC24A4
9 pigmentation GO:0043473 9.13 OCA2 HPS6 CD63
10 melanocyte differentiation GO:0030318 8.8 SLC24A5 OCA2 HPS6

Molecular functions related to Syndromic Oculocutaneous Albinism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.26 SLC24A5 SLC24A4
2 calcium channel activity GO:0005262 9.16 SLC24A5 SLC24A4
3 antiporter activity GO:0015297 8.96 SLC24A5 SLC24A4
4 calcium, potassium:sodium antiporter activity GO:0008273 8.62 SLC24A5 SLC24A4

Sources for Syndromic Oculocutaneous Albinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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